• [[Translated article]]Congenital and Hereditary Nail Disease
• A case of dermatopathia pigmentosa reticularis masquerading as dyskeratosis congenita: the importance of nailing the correct diagnosis
• A case report of dyskeratosis congenita caused by a novel TERC mutation
• A naturally occurring canine model of syndromic congenital microphthalmia
• A new variant in the <em>ZCCHC8</em> gene: diverse clinical phenotypes and expression in the lung
• A Novel Autosomal Recessive Candidate Gene Responsible for RASopathy-Like Phenotype and Bone Marrow Failure: <em>RASA3</em>
• A pan-cancer analysis of Dyskeratosis congenita 1 (DKC1) as a prognostic biomarker
• A Primary Gastrointestinal Presentation and Novel Genetic Variant of Dyskeratosis Congenita in a Pediatric Patient
• A rare homozygous variant in TERT gene causing variable bone marrow failure, fragility fractures, rib anomalies and extremely short telomere lengths with high serum IgE
• A Review of the Repair of DNA Double Strand Breaks in the Development of Oral Cancer
• A systematic approach identifies p53-DREAM pathway target genes associated with blood or brain abnormalities
• A systematic approach identifies p53-DREAM target genes associated with blood or brain abnormalities
• AC125611.3 promotes the progression of colon cancer by recruiting DKC1 to stabilize CTNNB1
• Allogeneic hematopoietic cell transplant for bone marrow failure or myelodysplastic syndrome in dyskeratosis congenita/telomere biology disorders: Single-center single-arm open-label trial of reduced intensity conditioning without radiation
• Allogeneic Hematopoietic Cell Transplant For Bone Marrow Failure or Myelodysplastic Syndrome in Dyskeratosis Congenita/Telomere Biology Disorders: Single-Center, Single-Arm, Open-Label Trial of Reduced-Intensity Conditioning Without Radiation
• An Algorithmic Approach Towards Diagnosis of Patients with Hereditary Reticulate Pigmentary Disorders- A narrative review
• Bilateral retinal vasculopathy in a patient with aplastic anemia due to dyskeratosis congenita
• Bone Marrow Failure
• Buildup from birth onward of short telomeres in human hematopoietic cells
• Can telomeric changes orchestrate the development of autoinflammatory skin diseases?
• Cancer Precursor Syndromes and Their Detection in the Head and Neck
• Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders
• Clinical mutations in the TERT and TERC genes coding for telomerase components induced oxidative stress, DNA damage at telomeres and cell apoptosis besides decreased telomerase activity
• Compound heterozygous mutations in the helicase RTEL1 causing Hoyeraal-Hreidarsson syndrome with Blake`s pouch cyst: a case report
• Conformational plasticity and allosteric communication networks explain Shelterin protein TPP1 binding to human telomerase
• Congenital and Hereditary Nail Disease
• Congenital nail abnormalities
• Control of protein synthesis through mRNA pseudouridylation by dyskerin
• Correction to: The C-terminal extension of dyskerin is a dyskeratosis congenita mutational hotspot that modulates interaction with telomerase RNA and subcellular localization
• CRISPR screen identifies CEBPB as contributor to dyskeratosis congenita fibroblast senescence via augmented inflammatory gene response
• CRISPR-Screen Identifies CEBPB as Contributor to Dyskeratosis Congenita Fibroblast Senescence Via Augmented Inflammatory Gene Response
• Cytogenetics in the management of bone marrow failure syndromes: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH)
• Digital telomere measurement by long-read sequencing distinguishes healthy aging from disease
• Diseases with oral malignant potential: Need for change to inform research, policy, and practice
• Dyskeratosis Congenita
• Dyskeratosis congenita associated with a novel missense variant in TERT: Approach for the dermatologists
• Dyskeratosis congenita und Ösophagusstriktur bei einem Kleinkind
• Dyskeratosis congenita with squamous cell carcinoma of the tongue: A rare case report
• Dyskeratosis Congenita: A Case Report of a Patient With Coronary Artery Disease
• Dyskeratosis congenita: a rare case report
• Dyskeratosis congenita: natural history of the disease through the study of a cohort of patients diagnosed in childhood
• Editorial: Inherited and acquired ribosomopathies: missing puzzle pieces
• Endoscopic Assessment and Serial Balloon Dilatation in a Toddler With Dyskeratosis Congenita-Hoyeraal-Hreidarsson Syndrome Following Bone Marrow Transplant: A Case Report
• Fyn-mediated phosphorylation of Menin disrupts telomere maintenance in stem cells
• Genetic Counseling and Family Screening Recommendations in Patients with Telomere Biology Disorders
• Germline landscape of <em>RPA1, RPA2 and RPA3</em> variants in pediatric malignancies: identification of <em>RPA1</em> as a novel cancer predisposition candidate gene
• Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita
• Hematopoietic cell transplantation for telomere biology diseases: A retrospective single-center cohort study
• Hoyeraal-Hreidarsson syndrome associated with a new homozygous splice variant in PARN
• Inherited bone marrow failure syndromes and germline predisposition to myeloid neoplasia: A practical approach for the pathologist
• Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico
• Inherited Reticulate Pigmentary Disorders
• Integrated proteogenomic analysis for inherited bone marrow failure syndrome
• Linking Gene Fusions to Bone Marrow Failure and Malignant Transformation in Dyskeratosis Congenita
• Liver involvement in dyskeratosis congenita-Case series and concise literature review
• MASCC/ISOO Clinical Practice Statement: The risk of secondary oral cancer following hematopoietic cell transplantation
• Minimal intensity conditioning strategies for bone marrow failure: is it time for "preventative" transplants?
• Mucosal Cancers Arising in Potentially Malignant Lesions of the Oral Mucosa Are Marjolin Ulcers: New Insights Into Old Concepts
• Multiple-Digit Pigmented Bowen's Disease Induced by Human Papillomavirus in an Immunocompetent Child
• New Insights into Dyskerin-CypA Interaction: Implications for X-Linked Dyskeratosis Congenita and Beyond
• Nucleotide sugars correlate with leukocyte telomere length as part of a dyskeratosis congenita metabolomic plasma signature
• Overexpression of human SAMD9 inhibits protein translation and alters MYC signaling resulting in cell cycle arrest
• p53 in the Molecular Circuitry of Bone Marrow Failure Syndromes
• Patient-Induced Pluripotent Stem Cell-Derived Hepatostellate Organoids Establish a Basis for Liver Pathologies in Telomeropathies
• Posttransplant complications in patients with marrow failure syndromes: are we improving long-term outcomes?
• Presumptive Cytomegalovirus Retinitis as a Complication of Dyskeratosis Congenita: A Case Report
• Prevalence of Oral Submucous Fibrosis With Other Oral Potentially Malignant Disorders: A Clinical Retrospective Study
• Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders
• Reduced anti-Müllerian hormone levels in males with inherited bone marrow failure syndromes
• Separation of telomere protection from length regulation by two different point mutations at amino acid 492 of RTEL1
• Severe Thrombocytopenia Due to Bone Marrow Failure in Children With Dyskeratosis Congenita Does Not Respond to Eltrombopag Treatment: Case Series
• Size matters in telomere biology disorders ‒ expanding phenotypic spectrum in patients with long or short telomeres
• Skin cancer-associated genodermatoses in skin of color patients: a review
• Spectrum of Liver Pathology in Dyskeratosis Congenita
• Telomerase RNA-based aptamers restore defective myelopoiesis in congenital neutropenic syndromes
• Telomere biology disorders may manifest as common variable immunodeficiency (CVID)
• Telomere length and cancer risk: finding Goldilocks
• The C-terminal extension of dyskerin is a dyskeratosis congenita mutational hotspot that modulates interaction with telomerase RNA and subcellular localization
• The distribution and accumulation of the shortest telomeres in telomere biology disorders
• The metabolic basis of inherited neutropenias
• The Molecular and Genetic Mechanisms of Inherited Bone Marrow Failure Syndromes: The Role of Inflammatory Cytokines in Their Pathogenesis
• The PARN, TOE1, and USB1 RNA deadenylases and their roles in non-coding RNA regulation
• The Use of Social Media to Express and Manage Medical Uncertainty in Dyskeratosis Congenita: Content Analysis
• What is the future of telomere length testing in telomere biology disorders?
• X-linked Dyskeratosis Congenita Case with Mutation 1058C>T(p.Ala353Val) in Dyskerine Gene
• X-linked genodermatoses from diagnosis to tailored therapy